• nephrotic syndrome

This report describes general characteristics of the group of diseases classified as nephrotic syndrome. Nephrotic syndrome is a genetically heterogeneous disorder, with multiple genes and mapped loci, and is characterized by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. A listing of nephrotic syndrome subtypes, as defined by OMIM, may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

In the literature, the clinical term 'nephrotic syndrome' (NPHS) and the pathologic term 'focal segmental glomerulosclerosis' (FSGS) have often been used to refer to the same disease entity; see the human disease model report 'focal segmental glomerulosclerosis', FBhh0000617.

In the fly, nephrocytes act in a manner analogous to human podocytes: the fly nephrocyte diaphragm functions like the mammalian slit diaphragm to regulate filtration; the nephrocytes may also function in protein reabsorption [reviewed in FBrf0220711 and FBrf0235870; see also the human disease model report 'kidney disease (fly models overview)' FBhh0000738].

Fu et al., 2017 (FBrf0235346) have characterized the Drosophila orthologs of a 40 human genes that have been implicated in nephrotic syndrome. 85% of the characterized fly genes are required for normal nephrocyte functions, providing a large collection of candidate genes for renal disease models.

[updated Jul. 2018 by FlyBase; FBrf0222196]